Six new grants from the National Institutes of Health will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for three years each, and total about $13 million, pending the availability of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute, both parts of NIH.
Comparing the genomes of many people suggests that there are tens of millions of genetic variants, or DNA spelling differences. For the last decade, scientists have used genome-wide association studies (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of people with and without a disease are compared to find the genomic regions containing variants that affect disease risk. Although GWAS may find hundreds of variants that appear to be associated with a disease, it remains a challenge to find out which variants actually have a role in the disease process, and what that role might be.
Most variants, including many that contribute to disease risk, response to drugs, and traits such as height, are in genomic regions that do not code for proteins. Those variants usually affect the regulation of genes, residing within “switches” in the genome that determine when and where proteins are made.
The researchers are developing computational approaches to combine many different sets of data to identify disease-causing variants or narrow down the set of candidate variants. They will use data from experiments to determine the accuracy of the computational predictions.
The following grants have been awarded (pending availability of funds):